Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:71639360..71642316-chr16:71645937..71648287,2	K562	blood:
2	chr16:71567921..71569617-chr16:71645011..71646646,2	MCF-7	breast:
3	chr16:71645006..71646699-chr16:71648502..71650487,2	MCF-7	breast:
4	chr16:71645072..71647361-chr16:71660009..71661728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140832	Chromatin interaction
ENSG00000260593	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10500560	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1056303	0.95[ASN][1000 genomes]
rs11641967	0.82[CHB][hapmap]
rs11642529	1.00[ASW][hapmap];0.92[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs11645598	0.82[CHB][hapmap]
rs11645783	0.80[EUR][1000 genomes]
rs11649535	0.81[EUR][1000 genomes]
rs11670	0.88[ASN][1000 genomes]
rs11861513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs11865021	0.88[EUR][1000 genomes]
rs12446005	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12448022	1.00[JPT][hapmap]
rs12928939	1.00[JPT][hapmap]
rs1345868	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34028112	0.85[ASN][1000 genomes]
rs34680964	0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs60232159	0.81[EUR][1000 genomes]
rs61733127	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61753635	0.95[ASN][1000 genomes]
rs71403864	0.85[ASN][1000 genomes]
rs7185575	0.90[ASN][1000 genomes]
rs7192860	1.00[ASN][1000 genomes]
rs7202840	1.00[JPT][hapmap]
rs7205340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8046629	0.93[ASN][1000 genomes]
rs8049163	1.00[JPT][hapmap]
rs8051309	0.90[EUR][1000 genomes]
rs8051878	1.00[JPT][hapmap]
rs8053623	1.00[ASN][1000 genomes]
rs8053677	0.80[EUR][1000 genomes]
rs8056939	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3430225	chr16:71633500-71661205	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7190257	PHLPP2	cis	lymphoblastoid	seeQTL
rs7190257	TXNL4B	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71644200-71647600	Weak transcription	Right Atrium	heart
2	chr16:71645600-71647000	Enhancers	HepG2	liver
3	chr16:71645800-71649400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:71645800-71650000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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